Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.810 | CausalMutation | CLINVAR | |||||||||
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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | Aberrant splicing of the CHM gene is a significant cause of choroideremia. | 1302003 | 1992 | ||||||
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0.810 | GeneticVariation | UNIPROT | Missense mutation in the choroideremia gene. | 7951216 | 1994 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | REP-1 gene mutations in Japanese patients with choroideremia. | 10447648 | 1999 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutational analysis of patients with the diagnosis of choroideremia. | 12203991 | 2002 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. | 12827496 | 2003 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. | 16936131 | 2006 | ||||||
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0.810 | GeneticVariation | UNIPROT | The functional effect of pathogenic mutations in Rab escort protein 1. | 19427510 | 2009 | |||||||
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0.810 | GeneticVariation | BEFREE | In fact, we also identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated to CHM. | 21905166 | 2011 |